• 作者：Isabel Camañ ; o Gutié ; rrez^a ; ^{icamano.hdoc@salud.madrid.org} ; M. Dolores Montañ ; ez Quero^a ; Olga Villar Ruiz^a ; Paloma Vallejo Pé ; rez^a ; Antonio Garc&#237 ; a Burguillo^a ; José ; Manuel Herná ; ndez Garc&#237 ; a^a ; Marcela del R&#237 ; o^b ; ^c
• 关键词：Epidermó ; losis bullosa distró ; fica recesiva ; Diagnó ; stico prenatal ; Parto ; Complicaciones de la gestació ; n
• 刊名：Progresos de Obstetricia y Ginecolog铆a
• 出版年：2009
• 期刊代码：pca294_03045013
• 类别：med
• 出版时间：September 2009
• 卷：52
• 期：9
• 页码：529-532
• 文件大小：200 K

Recessive non-Hallopeau-Siemens dystrophic epidermolysis bullosa is a rare and severe inherited skin disease characterized by increased skin fragility that can also involve the mucosa. This entity is not associated with pregnancy complications. Genetic counselling must be offered, because the risk of recurrence in parents with an affected child is 25%. However, because transmission is recessive, the risk of having affected offspring in individuals with the disease is less than 1%. Therefore prenatal diagnosis is only required if the partner has a familial history of the disease or if there is consanguinity or suspected consanguinity (for example, if both families are from the same geographical area). Vaginal delivery and breast feeding are not contraindicated, but are difficult and require individual assessment and close monitoring.